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Search results 201 to 239 out of 239 for Dysf

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0.019s
Type Details Score
Protein Domain
Type: Domain
Description: Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the first C2 repeat of ferlins, C2A, which has a type-II topology.
Publication  
First Author: Lek A
Year: 2010
Journal: BMC Evol Biol
Title: Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.
Volume: 10
Pages: 231
Publication
First Author: Lek A
Year: 2012
Journal: Traffic
Title: Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.
Volume: 13
Issue: 2
Pages: 185-94
Protein
Organism: Mus musculus/domesticus
Length: 1862  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1307  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 2038  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2090  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1992  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1997  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2048  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2090  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1977  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2103  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1977  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2114  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1994  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2061  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2082  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2099  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2048  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2061  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2104  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1992  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2103  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2120  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 2083  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 1997  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 523  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 172  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 209  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 228  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 261  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 114  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 161  
Fragment?: true
Publication
First Author: Ponting CP
Year: 1996
Journal: Protein Sci
Title: Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin.
Volume: 5
Issue: 1
Pages: 162-6
Publication
First Author: Rizo J
Year: 1998
Journal: J Biol Chem
Title: C2-domains, structure and function of a universal Ca2+-binding domain.
Volume: 273
Issue: 26
Pages: 15879-82
Publication
First Author: Nalefski EA
Year: 1996
Journal: Protein Sci
Title: The C2 domain calcium-binding motif: structural and functional diversity.
Volume: 5
Issue: 12
Pages: 2375-90
Protein
Organism: Mus musculus/domesticus
Length: 460  
Fragment?: true
Publication
First Author: Gerhard DS
Year: 2004
Journal: Genome Res
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume: 14
Issue: 10B
Pages: 2121-7